New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.
Hoenicka
J
J
Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
Rodríguez-Pombo
P
P
Pérez-Cerdá
C
C
Muro
S
S
Richard
E
E
Ugarte
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D019735:Carbon-Carbon Ligases / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D011422:Propionates / Q000378:metabolism*; D013030:Spain
D018076:DNA, Complementary; D011422:Propionates; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C029658:propionic acid